ClinVar Miner

Submissions for variant NM_030761.5(WNT4):c.1006G>A (p.Val336Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003194079 SCV003897495 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.1006G>A (p.V336I) alteration is located in exon 5 (coding exon 5) of the WNT4 gene. This alteration results from a G to A substitution at nucleotide position 1006, causing the valine (V) at amino acid position 336 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021849 SCV005643889 uncertain significance Mullerian aplasia and hyperandrogenism; SERKAL syndrome 2024-03-04 criteria provided, single submitter clinical testing

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